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Agammaglobulinemia, Non-Bruton Type

Overview

Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; {300755}), also known as Bruton disease, which is caused by mutation in the BTK gene ({300300}). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings ({4:Lopez Granados et al., 2002}; {3:Ferrari et al., 2007}). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia ({3:Ferrari et al., 2007}). {1:Conley (1999)} gave a comprehensive review of autosomal recessive agammaglobulinemia.
Genetic Heterogeneity of Autosomal Agammaglobulinemia
Autosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 ({613500}), caused by mutation in the IGLL1 gene ({146770}); AGM3 ({613501}), caused by mutation in the CD79A gene ({112205}); AGM4 ({613502}), caused by mutation in the BLNK gene ({604515}); AGM5 ({613506}), caused by disruption of the LRRC8 gene ({608360}); AGM6 ({612692}), caused by mutation in the CD79B gene ({147245}); AGM7 ({615214}), caused by mutation in the PIK3R1 gene ({171833}); and AGM8 ({616941}), caused by mutation in the TCF3 gene ({147141}). Source: Online Mendelian Inheritance in Man

This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.